Jorge S. Reis-Filho, MD, PhD

In this lab

The focus of my laboratory is on the identification of the drivers of special histological types of breastcancer, rare forms of the disease that together account for up to 25 percent of all invasive breast cancers, using a combination of massively parallel sequencing and functional genomics approaches. These rare forms of breast cancer have been shown to be less transcriptomically and genomically heterogeneous than the common type of the disease, the so-called invasive ductal carcinomas.

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Our hypothesis is that the analysis of phenotypically homogeneous subsets of breast cancers will lead to the identification of novel drivers of the disease and pathognomonic mutations. Our goals are to develop a predictive classification system for these rare types of breast cancer and to define potential therapeutic targets that can be used to manage not only tumors of each of these special histological types but also subsets of the common types of the disease.

Our laboratory also investigates the impact of intratumor genetic heterogeneity on the biology and clinical behavior of breast cancers. Our hypothesis is that breast cancers are mosaics composed of cancer cell clones that, in addition to the founder genetic events, harbor private mutations, and that these mutations play a role in the ability of cancer cells to metastasize and become resistant to chemotherapy and targeted agents.

Our goal is to use this knowledge to develop and validate diagnostic, prognostic, and predictive biomarkers. We are currently investigating whether circulating DNA and/or circulating tumor cells can be used to define the entire constellation of mutations found in primary and metastatic breast cancers and how the genetic analyses of these biological materials could complement the information obtained from the analysis of primary tumor samples for clinical decision making.

analysis (uh-NA-lih-sis)

A process in which anything complex is separated into simple or less complex parts.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

biological (BY-oh-LAH-jih-kul)

Pertaining to biology or to life and living things. In medicine, refers to a substance made from a living organism or its products. Biologicals may be used to prevent, diagnose, treat or relieve of symptoms of a disease. For example, antibodies, interleukins, and vaccines are biologicals. Biological also refers to parents and children who are related by blood.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

breast (brest)

Glandular organ located on the chest. The breast is made up of connective tissue, fat, and breast tissue that contains the glands that can make milk. Also called mammary gland.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

breast cancer (brest KAN-ser)

Cancer that forms in tissues of the breast, usually the ducts (tubes that carry milk to the nipple) and lobules (glands that make milk). It occurs in both men and women, although male breast cancer is rare.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

cancer (KAN-ser)

A term for diseases in which abnormal cells divide without control and can invade nearby tissues. Cancer cells can also spread to other parts of the body through the blood and lymph systems. There are several main types of cancer. Carcinoma is a cancer that begins in the skin or in tissues that line or cover internal organs. Sarcoma is a cancer that begins in bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. Leukemia is a cancer that starts in blood-forming tissue such as the bone marrow, and causes large numbers of abnormal blood cells to be produced and enter the blood. Lymphoma and multiple myeloma are cancers that begin in the cells of the immune system. Central nervous system cancers are cancers that begin in the tissues of the brain and spinal cord. Also called malignancy.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

cell (sel)

The individual unit that makes up the tissues of the body. All living things are made up of one or more cells.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

chemotherapy (KEE-moh-THAYR-uh-pee)

Treatment with drugs that kill cancer cells.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

clinical (KLIH-nih-kul)

Having to do with the examination and treatment of patients.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

DNA

The molecules inside cells that carry genetic information and pass it from one generation to the next. Also called deoxyribonucleic acid.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

genetic (jeh-NEH-tik)

Inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

genomics (jeh-NOH-mix)

The study of the complete genetic material, including genes and their functions, of an organism.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

heterogeneous (HEH-teh-roh-JEE-nee-us)

Made up of elements or ingredients that are not alike.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

hypothesis (hy-PAH-theh-sis)

A tentative proposal made to explain certain observations or facts that requires further investigation to be verified.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

investigator (in-VES-tih-gay-ter)

A researcher in a clinical trial or clinical study.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

metastasize (meh-TAS-tuh-size)

To spread from one part of the body to another. When cancer cells metastasize and form secondary tumors, the cells in the metastatic tumor are like those in the original (primary) tumor.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

metastatic (meh-tuh-STA-tik)

Having to do with metastasis, which is the spread of cancer from the primary site (place where it started) to other places in the body.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

pathognomonic (PA-thog-noh-MAH-nik)

Having to do with a sign or symptom that is specific to a certain disease.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

physician (fih-ZIH-shun)

Medical doctor.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

primary tumor (PRY-mayr-ee TOO-mer)

The original tumor.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

therapeutic (THAYR-uh-PYOO-tik)

Having to do with treating disease and helping healing take place.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

translational research (trans-LAY-shuh-nul reh-SERCH)

A term used to describe the process by which the results of research done in the laboratory are used to develop new ways to diagnose and treat disease.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

tumor (TOO-mer)

An abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)

will (wil)

A legal document in which a person states what is to be done with his or her property after death, who is to carry out the terms of the will, and who is to care for any minor children.

Source: The National Cancer Institute's Dictionary of Cancer Terms(http://www.cancer.gov/dictionary)